Canonical Allele Identifier: CA209023
Gene: TMEM237 HGNC NCBI

Linked Data

ClinVar Variation Id: 212405
dbSNP Id: rs149240122

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201626120G>C , CM000664.2:g.201626120G>C GRCh38
NC_000002.11:g.202490843G>C , CM000664.1:g.202490843G>C GRCh37
NC_000002.10:g.202199088G>C NCBI36
NG_032049.1:g.22410C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000471318.6:n.861C>G
ENST00000621467.5:c.939C>G ENSP00000480508.2:p.Leu313=
ENST00000686475.1:n.1005C>G
ENST00000409883.7:c.1065C>G MANE Select ENSP00000386264.2:p.Leu355=
ENST00000286196.9:c.*629C>G ENSP00000286196.5:n.*629C>G
ENST00000409444.6:c.1041C>G ENSP00000387203.2:p.Leu347=
ENST00000409883.6:c.1065C>G ENSP00000386264.2:p.Leu355=
ENST00000471318.5:n.293C>G
ENST00000495329.1:n.204C>G
ENST00000621467.4:c.1041C>G ENSP00000480508.1:p.Leu347=
NM_001044385.2:c.1065C>G NP_001037850.1:p.Leu355=
NM_152388.3:c.1041C>G NP_689601.2:p.Leu347=
NM_001044385.3:c.1065C>G MANE Select NP_001037850.1:p.Leu355=
NM_152388.4:c.1041C>G NP_689601.2:p.Leu347=